2018年10月22日 · We report that, unlike wild-type FUS that binds on precursor mRNAs (pre-mRNAs), R495X binds mature mRNAs in the cytoplasm. R495X has a moderate effect on target mRNA expression and its...

2024年4月17日 · Herein, we report the reversible formation of the two LLPS states and the irreversible liquid–solid transition, namely droplet aging, of the ALS patient-type FUS variant R495X using...

An ALS-linked FUS mutant, R495X, shows extensive cytoplasmic localization and forms granules in neurons. In the present study, using R495X domain deletion constructs, we showed that deletion of any of Gly-rich, RGG1 or RGG2 significantly suppressed granule formation.

2018年3月6日 · These mice express a mutant form of human FUS carrying a truncation mutation near the C-terminus. The transgene is driven by the mouse prion protein (Prp) promoter. The mutation abrogates the nuclear localization sequence and …

2021年2月12日 · Biochemical analysis revealed that the truncated FUS (R495X) protein, although missing the PY-NLS, can still bind Kapβ2 and suppresses LLPS. FUS (R495X) uses its C-terminal tandem...

The hFUS*R495X mutation in the nuclear-localization domain is associated with significant cytoplasmically-mislocalized hFUS and amyotrophic lateral sclerosis (ALS). These mice may be useful in studying neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease) and frontotemporal lobar degeneration (FTLD).

2010年11月1日 · Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the mechanism by which these mutants cause motor neuron degeneration is not known. We report a novel ALS truncation mutant (R495X) that leads to a relatively severe ALS clinical phenoty …

2025年2月13日 · The liquid-solid phase transition in HP-LLPS was more accelerated in R495X than WT; arginine slowed the aging of droplets by inhibiting the formation of HP-LLPS. Our findings provide new insight into the mechanism by …

2010年11月1日 · Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the mechanism by which these mutants cause motor neuron degeneration is not known. We report a novel ALS truncation mutant (R495X) that leads to a relatively severe ALS clinical phenotype compared with FUS missense mutations.

2018年3月1日 · FUS promotes gene silencing by binding to microRNA and mRNA targets, as illustrated by its action on miR-200c and its target ZEB1. A truncated mutant form of FUS that leads its carriers to an aggressive form of ALS, R495X, …